Canonical Allele Identifier: CA938623702

Gene: FTH1 BEST1

Linked Data

• dbSNP Id: rs1352812155
• gnomAD v3: 11-61964458-C-A
• gnomAD v4: 11-61964458-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964458C>A , CM000673.2:g.61964458C>A	GRCh38
NC_000011.9:g.61731930C>A , CM000673.1:g.61731930C>A	GRCh37
NC_000011.8:g.61488506C>A	NCBI36
NG_008346.1:g.8203G>T
NG_009033.1:g.19575C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273550.12:c.*269G>T (FTH1) MANE Select	ENSP00000273550.7:n.*269G>T
ENST00000378043.9:c.*336C>A (BEST1) MANE Select	ENSP00000367282.4:n.*336C>A
ENST00000273550.11:c.*269G>T (FTH1)	ENSP00000273550.7:n.*269G>T
ENST00000378043.8:c.*336C>A (BEST1)	ENSP00000367282.4:n.*336C>A
ENST00000449131.6:c.*1309C>A (BEST1)	ENSP00000399709.2:n.*1309C>A
ENST00000524926.5:c.*989C>A (BEST1)	ENSP00000432681.1:n.*989C>A
ENST00000529191.5:c.114+2854G>T (FTH1)	ENSP00000431659.1:n.114+2854G>T
ENST00000529631.5:c.114+2854G>T (FTH1)	ENSP00000431575.1:n.114+2854G>T
ENST00000530019.5:c.261+911G>T (FTH1)	ENSP00000433470.1:n.261+911G>T
NM_001300786.1:c.*336C>A (BEST1)	NP_001287715.1:n.*336C>A
NM_001300787.1:c.*336C>A (BEST1)	NP_001287716.1:n.*336C>A
NM_002032.2:c.*269G>T (FTH1)	NP_002023.2:n.*269G>T
NM_004183.3:c.*336C>A (BEST1)	NP_004174.1:n.*336C>A
XM_005274210.2:c.*1309C>A (BEST1)	XP_005274267.1:n.*1309C>A
XM_005274215.2:c.*336C>A (BEST1)	XP_005274272.1:n.*336C>A
XM_011545229.1:c.*1309C>A (BEST1)	XP_011543531.1:n.*1309C>A
XM_011545230.1:c.*1309C>A (BEST1)	XP_011543532.1:n.*1309C>A
XM_011545231.1:c.*1309C>A (BEST1)	XP_011543533.1:n.*1309C>A
XM_011545233.1:c.*1309C>A (BEST1)	XP_011543535.1:n.*1309C>A
NM_001363591.1:c.*1309C>A (BEST1)	NP_001350520.1:n.*1309C>A
NM_001363592.1:c.*2199C>A (BEST1)	NP_001350521.1:n.*2199C>A
NM_001363593.1:c.*1309C>A (BEST1)	NP_001350522.1:n.*1309C>A
NR_134580.1:n.2877C>A (BEST1)
XM_005274210.4:c.*1309C>A (BEST1)	XP_005274267.1:n.*1309C>A
XM_005274215.4:c.*336C>A (BEST1)	XP_005274272.1:n.*336C>A
XM_005274216.4:c.*2199C>A (BEST1)	XP_005274273.1:n.*2199C>A
XM_005274219.4:c.*2105C>A (BEST1)	XP_005274276.1:n.*2105C>A
XM_005274221.4:c.*2105C>A (BEST1)	XP_005274278.1:n.*2105C>A
XM_011545229.3:c.*1309C>A (BEST1)	XP_011543531.1:n.*1309C>A
XM_011545230.3:c.*1309C>A (BEST1)	XP_011543532.1:n.*1309C>A
XM_011545233.3:c.*1309C>A (BEST1)	XP_011543535.1:n.*1309C>A
XM_017018230.2:c.*2199C>A (BEST1)	XP_016873719.1:n.*2199C>A
NM_002032.3:c.*269G>T (FTH1) MANE Select	NP_002023.2:n.*269G>T
NM_004183.4:c.*336C>A (BEST1) MANE Select	NP_004174.1:n.*336C>A
NM_001139443.2:c.*1309C>A (BEST1)	NP_001132915.1:n.*1309C>A
NM_001300786.2:c.*336C>A (BEST1)	NP_001287715.1:n.*336C>A
NM_001300787.2:c.*336C>A (BEST1)	NP_001287716.1:n.*336C>A
NM_001363591.2:c.*1309C>A (BEST1)	NP_001350520.1:n.*1309C>A
NM_001363593.2:c.*1309C>A (BEST1)	NP_001350522.1:n.*1309C>A
NR_134580.2:n.2410C>A (BEST1)